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Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes
Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes
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Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes

Shahmoradian, Sarah H ; Lewis, Amanda J ; Genoud, Christel ; Hench, Jürgen ; Moors, Tim E ; Navarro, Paula P ; Castaño-Díez, Daniel ; Schweighauser, Gabriel ; Graff-Meyer, Alexandra ; Goldie, Kenneth N ; Sütterlin, Rosmarie ; Huisman, Evelien ; Ingrassia, Angela ; Gier, Yvonne de ; Rozemuller, Annemieke J M ; Wang, Jing ; Paepe, Anne De ; Erny, Johannes ; Staempfli, Andreas ; Hoernschemeyer, Joerg ; Großerüschkamp, Frederik ; Niedieker, Daniel ; El-Mashtoly, Samir F ; Quadri, Marialuisa ; Van IJcken, Wilfred F J ; Bonifati, Vincenzo ; Gerwert, Klaus ; Bohrmann, Bernd ; Frank, Stephan ; Britschgi, Markus ; Stahlberg, Henning ; Van de Berg, Wilma D J ; Lauer, Matthias E

Nature neuroscience, 2019-07, Vol.22 (7), p.1099-1109 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
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Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia

de Vrij, Femke M ; Bouwkamp, Christian G ; Gunhanlar, Nilhan ; Shpak, Guy ; Lendemeijer, Bas ; Baghdadi, Maarouf ; Gopalakrishna, Shreekara ; Ghazvini, Mehrnaz ; Li, Tracy M ; Quadri, Marialuisa ; Olgiati, Simone ; Breedveld, Guido J ; Coesmans, Michiel ; Mientjes, Edwin ; de Wit, Ton ; Verheijen, Frans W ; Beverloo, H Berna ; Cohen, Dan ; Kok, Rob M ; Bakker, P Roberto ; Nijburg, Aviva ; Spijker, Annet T ; Haffmans, P M Judith ; Hoencamp, Erik ; Bergink, Veerle ; Vorstman, Jacob A ; Wu, Timothy ; Olde Loohuis, Loes M ; Amin, Najaf ; Langen, Carolyn D ; Hofman, Albert ; Hoogendijk, Witte J ; van Duijn, Cornelia M ; Ikram, M Arfan ; Vernooij, Meike W ; Tiemeier, Henning ; Uitterlinden, André G ; Elgersma, Ype ; Distel, Ben ; Gribnau, Joost ; White, Tonya ; Bonifati, Vincenzo ; Kushner, Steven A

Molecular psychiatry, 2019-05, Vol.24 (5), p.757-771 [Periódico revisado por pares]

England: Nature Publishing Group

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3
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family
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PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family

Olgiati, Simone ; De Rosa, Anna ; Quadri, Marialuisa ; Criscuolo, Chiara ; Breedveld, Guido J. ; Picillo, Marina ; Pappatà, Sabina ; Quarantelli, Mario ; Barone, Paolo ; De Michele, Giuseppe ; Bonifati, Vincenzo

Neurogenetics, 2014-08, Vol.15 (3), p.183-188 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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4
Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes
Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes
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Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes

Quadri, Marialuisa ; Kamate, Mahesh ; Sharma, Suvasini ; Olgiati, Simone ; Graafland, Josja ; Breedveld, Guido J. ; Kori, Indu ; Hattiholi, Virupaxi ; Jain, Puneet ; Aneja, Satinder ; Kumar, Atin ; Gulati, Parveen ; Goel, Medha ; Talukdar, Bibek ; Bonifati, Vincenzo

Movement disorders, 2015-06, Vol.30 (7), p.996-1001 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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5
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family
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Early-onset parkinsonism caused by alpha-synuclein gene triplication: Clinical and genetic findings in a novel family

Olgiati, Simone ; Thomas, Astrid ; Quadri, Marialuisa ; Breedveld, Guido J ; Graafland, Josja ; Eussen, Hubertus ; Douben, Hannie ; de Klein, Annelies ; Onofrj, Marco ; Bonifati, Vincenzo

Parkinsonism & related disorders, 2015-08, Vol.21 (8), p.981-986 [Periódico revisado por pares]

England: Elsevier Ltd

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6
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia
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Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

Quadri, Marialuisa ; Cossu, Giovanni ; Saddi, Valeria ; Simons, Erik J. ; Murgia, Daniela ; Melis, Maurizio ; Ticca, Anna ; Oostra, Ben A. ; Bonifati, Vincenzo

Neurogenetics, 2011-08, Vol.12 (3), p.203-209 [Periódico revisado por pares]

Berlin/Heidelberg: Springer-Verlag

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7
Genetics of movement disorders in the next-generation sequencing era
Genetics of movement disorders in the next-generation sequencing era
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Genetics of movement disorders in the next-generation sequencing era

Olgiati, Simone ; Quadri, Marialuisa ; Bonifati, Vincenzo

Movement disorders, 2016-04, Vol.31 (4), p.458-470 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?
TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?
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TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?

Mandemakers, Wim ; Quadri, Marialuisa ; Stamelou, Maria ; Bonifati, Vincenzo

Movement disorders, 2017-08, Vol.32 (8), p.1159-1162 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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9
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies
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Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson’s Disease and Dementia with Lewy Bodies

Moors, Tim E. ; Paciotti, Silvia ; Ingrassia, Angela ; Quadri, Marialuisa ; Breedveld, Guido ; Tasegian, Anna ; Chiasserini, Davide ; Eusebi, Paolo ; Duran-Pacheco, Gonzalo ; Kremer, Thomas ; Calabresi, Paolo ; Bonifati, Vincenzo ; Parnetti, Lucilla ; Beccari, Tommaso ; van de Berg, Wilma D. J.

Molecular neurobiology, 2019-02, Vol.56 (2), p.1344-1355 [Periódico revisado por pares]

New York: Springer US

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10
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
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Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Quadri, Marialuisa ; Federico, Antonio ; Zhao, Tianna ; Breedveld, Guido J. ; Battisti, Carla ; Delnooz, Cathérine ; Severijnen, Lies-Anne ; Di Toro Mammarella, Lara ; Mignarri, Andrea ; Monti, Lucia ; Sanna, Antioco ; Lu, Peng ; Punzo, Francesca ; Cossu, Giovanni ; Willemsen, Rob ; Rasi, Fabrizio ; Oostra, Ben A. ; van de Warrenburg, Bart P. ; Bonifati, Vincenzo

American journal of human genetics, 2012-03, Vol.90 (3), p.467-477 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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